[Mucolipidoses type IV in a patient with mapuche ancestry].
We report a 7 year-old girl with mapuche ancestors, diagnosed as a cerebral palsy since infancy and on active rehabilitation. She acquired motor and cognitive skills at 3 years of age. At 5 years of age, a slow neurological deterioration started, associated to visual impairment. Optic atrophy was added to the typical neurological exam of ataxic cerebral palsy and the diagnosis was re-considered. Neuroimaging showed a slow and progressive atrophy of intracerebral structures and ultramicroscopy revealed intracytoplasmatic inclusions in conjunctiva and skin, compatible with mucolipidoses type IV (ML-IV). ML-IV must be included in the differential diagnosis of cerebral palsy associated with loss of acquired skills and progressive visual impairment. Electron microscopy of skin or conjunctiva is a useful diagnostic test. Suspicion of ML-IV must not be restricted to Ashkenazi Jewish population.
Hernández Ch
Marta
M
Sección Neurología infantil y Enfermedades Metabólicas, Departamento de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile. mhernand@med.puc.cl
Méndez C
José Ignacio
JI
Concha G
María José
MJ
Huete L
Isidro
I
González B
Sergio
S
Durán S
Gloria P
GP
D002547:Cerebral Palsy / Q000175:diagnosis*; D002648:Child; D002677:Chile; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007199:Indians, South American; D009682:Magnetic Resonance Spectroscopy; D009081:Mucolipidoses / Q000175:diagnosis* / Q000208:ethnology